Recurrence of the PKD1 nonsense mutation Q4041X in Spanish, Italian, and British families.
Torra
R
R
Servei de Nefrologia, Hospital Clínic, Villarroel, Barcelona, Spain.
Badenas
C
C
Peral
B
B
Darnell
A
A
Serra
E
E
Gamble
V
V
Turco
A E
AE
Harris
P C
PC
Estivill
X
X
D000293:Adolescent; D000328:Adult; D018388:Codon, Terminator / Q000235:genetics; D004247:DNA / Q000737:chemistry / Q000235:genetics / Q000378:metabolism; D004252:DNA Mutational Analysis; D015252:Deoxyribonucleases, Type II Site-Specific / Q000378:metabolism; D004739:England; D005192:Family Health; D005973:Glutamine; D006801:Humans; D007558:Italy; D008297:Male; D008875:Middle Aged; D009154:Mutation; D017354:Point Mutation; D016891:Polycystic Kidney, Autosomal Dominant / Q000235:genetics*; D011506:Proteins / Q000235:genetics*; D013030:Spain; D050396:TRPP Cation Channels
D018388:Codon, Terminator; D004247:DNA; D015252:Deoxyribonucleases, Type II Site-Specific; D005973:Glutamine; D011506:Proteins; D050396:TRPP Cation Channels; C040836:CTAG-specific type II deoxyribonucleases